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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-25757722-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=25757722&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 25757722,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015187.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3152G>C",
"hgvs_p": "p.Arg1051Pro",
"transcript": "NM_015187.5",
"protein_id": "NP_056002.2",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3152,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399878.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015187.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3152G>C",
"hgvs_p": "p.Arg1051Pro",
"transcript": "ENST00000399878.8",
"protein_id": "ENSP00000382767.3",
"transcript_support_level": 1,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3152,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015187.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399878.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3047G>C",
"hgvs_p": "p.Arg1016Pro",
"transcript": "ENST00000264868.9",
"protein_id": "ENSP00000264868.5",
"transcript_support_level": 1,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264868.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3257G>C",
"hgvs_p": "p.Arg1086Pro",
"transcript": "ENST00000929301.1",
"protein_id": "ENSP00000599360.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929301.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Arg1030Pro",
"transcript": "ENST00000929305.1",
"protein_id": "ENSP00000599364.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929305.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3068G>C",
"hgvs_p": "p.Arg1023Pro",
"transcript": "ENST00000929304.1",
"protein_id": "ENSP00000599363.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3068,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929304.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3047G>C",
"hgvs_p": "p.Arg1016Pro",
"transcript": "NM_001297592.2",
"protein_id": "NP_001284521.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297592.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3038G>C",
"hgvs_p": "p.Arg1013Pro",
"transcript": "ENST00000960872.1",
"protein_id": "ENSP00000630931.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3038,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960872.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2972G>C",
"hgvs_p": "p.Arg991Pro",
"transcript": "ENST00000960871.1",
"protein_id": "ENSP00000630930.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960871.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2960G>C",
"hgvs_p": "p.Arg987Pro",
"transcript": "ENST00000889111.1",
"protein_id": "ENSP00000559170.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889111.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2903G>C",
"hgvs_p": "p.Arg968Pro",
"transcript": "ENST00000929303.1",
"protein_id": "ENSP00000599362.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929303.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2849G>C",
"hgvs_p": "p.Arg950Pro",
"transcript": "ENST00000889110.1",
"protein_id": "ENSP00000559169.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889110.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2723G>C",
"hgvs_p": "p.Arg908Pro",
"transcript": "ENST00000929302.1",
"protein_id": "ENSP00000599361.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 989,
"cds_start": 2723,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929302.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2693G>C",
"hgvs_p": "p.Arg898Pro",
"transcript": "NM_001297594.2",
"protein_id": "NP_001284523.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 979,
"cds_start": 2693,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297594.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2693G>C",
"hgvs_p": "p.Arg898Pro",
"transcript": "ENST00000502949.5",
"protein_id": "ENSP00000425438.1",
"transcript_support_level": 2,
"aa_start": 898,
"aa_end": null,
"aa_length": 979,
"cds_start": 2693,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502949.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2321G>C",
"hgvs_p": "p.Arg774Pro",
"transcript": "ENST00000889112.1",
"protein_id": "ENSP00000559171.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 855,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889112.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000510448.5",
"protein_id": "ENSP00000421701.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 129,
"cds_start": 230,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510448.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3152G>C",
"hgvs_p": "p.Arg1051Pro",
"transcript": "XM_011513819.3",
"protein_id": "XP_011512121.2",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3152,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513819.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2693G>C",
"hgvs_p": "p.Arg898Pro",
"transcript": "XM_024453953.2",
"protein_id": "XP_024309721.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 950,
"cds_start": 2693,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453953.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2293-9187G>C",
"hgvs_p": null,
"transcript": "ENST00000960870.1",
"protein_id": "ENSP00000630929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.357-116G>C",
"hgvs_p": null,
"transcript": "ENST00000507618.1",
"protein_id": "ENSP00000426050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "n.131G>C",
"hgvs_p": null,
"transcript": "ENST00000512286.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"PP3"
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"verdict": "Uncertain_significance",
"transcript": "NM_015187.5",
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"effects": [
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"inheritance_mode": "AR",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}